Article
Independent mechanisms of inflammation and myeloid bias in VEXAS syndrome.
Nature - 1 Jan 2026
Narendra Varun K, Das Tandrila, Wierciszewski Linsey J, Londoner Rebecca J, Morrison Joshua K, Martindale Pia, Devine Tessa, Chen Kevin, Trombetta Michael, Kanno Yuzuka, Casiano Alejandro E, de Stanchina Elisa, Lareau Caleb A, Lowe Scott W, Gitlin Alexander D
Abstract excerpt
Somatically acquired mutations in the E1 ubiquitin-activating enzyme UBA1 within haematopoietic stem and progenitor cells (HSPCs) were recently identified as the cause of the adult-onset autoinflammatory syndrome VEXAS (vacuoles, E1 enzyme, X linked, autoinflammatory, somatic)1. UBA1 mutations in VEXAS lead to clonal expansion within the HSPC and myeloid, but not lymphoid, compartments. Despite its severity and...
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